Cystic Fibrosis (CF) is a very common genetic disease that affects the lungs and other internal organs. It is often fatal, with most cystic fibrosis sufferers only having a lifespan of 30 years. While there is no cure for the condition, researchers have been using stem cells to develop potential treatments. This article will share some information about cystic fibrosis and the recent stem cell research projects that may lead to a cure.
What is cystic fibrosis?
Cystic fibrosis is a progressive genetic disease that causes the lungs to fill up with mucus, impacting the ability of a person to breath. The mucus in the lungs causes the airways to become clogged, leading to infections and lung damage. Eventually, many cystic fibrosis sufferers experience lung failure. Mucus also builds up in the pancreas, which prevents it from releasing digestive enzymes that help the body break down food.
Cystic fibrosis is caused by a defective gene. If two people have this defective gene, then there is:
- 25% chance that their child will have Cystic fibrosis.
- 50% chance that their child will carry the gene but won’t have Cystic fibrosis.
- 25% chance that their child will not carry the gene and will not have Cystic fibrosis.
The defective gene that causes cystic fibrosis also has a mutation which makes it difficult to screen for the condition.
Some of the symptoms that occur in patients with cystic fibrosis include persistent coughing, frequent lung infections, poor growth or weight gain, shortness of breath, and difficulty with bowel movements.
Cystic is currently treated with inhaled medicines and physical therapies that clear the airways. There are also drugs available to help the pancreas produce enzymes, improving the body’s ability to absorb nutrients.
A new group of drugs called CFTR modulators have also come onto the market. CFTR stands for cystic fibrosis transmembrane conductance regulator — a protein that regulates how much water, chloride, and thiocyanate is passed through cells. They include ivacaftor (Kalydeco®), lumacaftor/ivacaftor (Orkambi ®), and tezacaftor/ivacaftor (SymdekoTM).
By modulating the CFTR protein, these drugs control how much water and chloride move between cells in the lungs and other organs. This can dramatically reduce the amount of mucus being produced. Learn more about this treatment
Using stem cells to treat cystic fibrosis
Many researchers believe that stem cells hold the answer to treating and ultimately curing cystic fibrosis. Stem cells are the building blocks of the human body — capable of creating other cells including lung spheroid cells, myocytes (muscle cells), osteoblasts (bone cells), chondrocytes (cartilage cells) and adipocytes (fat cells).
Researchers have been using stem cells to regenerate tissue, reduce inflammation, and generate healthy new cells for many years. In fact, there are already more than 80 treatments using stem cells for everything from immune system disorders to blood cancer.
The research community has also discovered that umbilical cord blood is a particularly rich source of stem cells, including hematopoietic (blood forming stem cells) and multipotent stem cells (capable of producing many types of cells). Umbilical cord blood is easily obtained from discarded umbilical cords and has proven to be very useful in a wide range of clinical trials.
The journey to developing a stem cell treatment for cystic fibrosis has just begun, but there have already been some exciting breakthroughs.
Some researchers believe stem cells may be useful for treating cystic fibrosis by reducing lung inflammation and moderating the immune system’s response to bacteria in the lungs. The first person to put this theory forward was Dr. Reid D’Amico. In 2015, Dr D’Amico wrote a paper suggesting that Mesenchymal Stem Cells (MSCs) may be useful for reducing lung inflammation in people with CF. This would reduce lung scarring and mucus production.
This theory was tested in 2017, when American researchers performed the world’s first cystic fibrosis stem cell transplant. It was a small-scale study that involved 15 participants with cystic fibrosis. They received an intravenous injection of allogeneic human mesenchymal stem cells (hMSCs) from a non-related adult. The researchers hoped it would modulate their immune system response to the condition, reducing mucus production, lung inflammation, and lung scarring. Results of this study are expected to be shared in the coming months.
Two other important discoveries were also made in 2017. Researchers from the Boston University’s Center for Regenerative Medicine discovered a method that made stem cells focus on creating lung cells. It is theorised that these cells could then be transplanted to regenerate lung tissue.
The same researchers also found a way to convert immature lung cells into airway cells by turning off a signalling molecule. Both discoveries may help researchers develop treatments using stem cells to regenerate the lungs of cystic fibrosis patients.
The success of these early studies has led many to believe that people with cystic fibrosis may soon be able to access stem cell treatments that improve the condition of their lungs.